Obstetric history of women with m.3243A>G: an observational cohort study

Mitochondrial disease is a common type of inherited metabolic disease, typically caused by pathogenic variants in the maternally inherited mitochondrial DNA (mtDNA). In this study, we investigated a cohort of Finnish women harbouring the mtDNA variant m.3243A>G, the most common cause of adult mitochondrial disease. We found that these individuals may have an elevated risk for obstetric complications, such as gestational diabetes and gestational hypertension. In addition, the babies may have elevated risk of preterm birth and need of intensive care. We suggest that the pregnancies of women with m.3243A>G would benefit from a standardized care protocol for the safety of the mother and child. (By Dr. Mika Martikainen, https://jmg.bmj.com/content/early/2025/12/17/jmg-2025-110875 )

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